A5064327348- Down syndrome and intellectual disability research
- Dementia and Cognitive Impairment Research
- Alzheimer's disease research and treatments
- Health, Environment, Cognitive Aging
- Metabolomics and Mass Spectrometry Studies
- Chronic Disease Management Strategies
- Diet and metabolism studies
- Genetics and Neurodevelopmental Disorders
- Diabetes Management and Research
- Frailty in Older Adults
- Physiological and biochemical adaptations
- Cellular transport and secretion
- Biological Research and Disease Studies
- Animal Behavior and Reproduction
- Marine animal studies overview
- ECG Monitoring and Analysis
- Bioinformatics and Genomic Networks
Columbia University
2015-2025
Columbia University Irving Medical Center
2015-2024
Icahn School of Medicine at Mount Sinai
2021-2022
Fred Hutch Cancer Center
2012
Abstract Vertebrate sensory systems have evolved remarkable diversity, but little is known about the underlying genetic mechanisms. The lateral line system of aquatic vertebrates a promising model for investigations evolution because there extensive variation within and between species, this easily quantified. In present study, we compare threespine sticklebacks (Gasterosteus aculeatus) from an ancestral marine derived benthic lake population. We show that lab-raised individuals these...
The exposome reflects multiple exposures across the life-course that can affect health. Metabolomics reveal underlying molecular basis linking to health conditions. Here, we explore concept and general data analysis framework of "molecular gatekeepers"─key metabolites link single or exposure biomarkers with correlated clusters endogenous metabolites─to inform health-relevant biological targets. We performed untargeted metabolomics on plasma from 152 adolescent girls participating in Growing...
Abstract INTRODUCTION Aging adults with Down syndrome (DS) accumulate Alzheimer's disease (AD) neuropathology, including amyloid beta plaques and neurofibrillary tangles, by age 40. METHODS We present findings from an individual DS who remained cognitively stable despite AD neuropathology. Clinical assessments, fluid biomarkers, neuroimaging, neuropathological examinations were conducted to characterize her condition. RESULTS Her apolipoprotein E was ε2/ε3 genome‐wide association study data...
Abstract INTRODUCTION This study aimed to investigate the influence of overall Alzheimer's disease (AD) genetic architecture on Down syndrome (DS) status, cognitive measures, and cerebrospinal fluid (CSF) biomarkers. METHODS AD polygenic risk scores (PRS) were tested for association with DS‐related traits. RESULTS The PRS was associated status in several cohorts sporadic late‐ early‐onset familial late‐onset AD, but not or DS. On other hand, lower DS Mental Status Examination memory higher...
Abstract In this neuropathology case report, we present findings from an individual with Down syndrome (DS) who remained cognitively stable despite Alzheimer’s disease (AD) neuropathology. Clinical assessments, fluid biomarkers, neuroimaging, and neuropathological examinations were conducted to characterize her condition. Notably, ApoE genotype was E2/3, which is associated a decreased risk of dementia. Neuroimaging revealed yet elevated amyloid profiles moderately tau levels, while...
This study aims to determine 1) prevalence of metabolic syndrome (MetS) in adults with Down (DS), 2) whether MetS alters risk dementia DS.
Background: Individuals with Down syndrome (DS) are at high risk of early-onset Alzheimer's disease (AD); yet, some 20 percent do not develop any signs dementia until after 65 years or in their lifetime. Mosaicism could contribute to this phenotypic variation, where disomic cells lead lower levels gene products from chromosome 21.Methods: We examined cross-sectional and longitudinal neuropsychological biomarker data two large studies DS: the Alzheimer Biomarker Consortium–Down study (ABC-DS)...
Abstract Background Adults with Down Syndrome (DS) are at higher risk for Alzheimer's disease (AD) compared to the general population due trisomy of chromosome 21. Thus, it is important investigate role AD‐related biomarkers in adults DS. Here we have performed genome‐wide association analyses on amyloid‐PET and plasma amyloid levels participants Alzheimer’s Biomarker Consortium – (ABC‐DS). Method Genome‐wide were 294 non‐Hispanic whites DS (ranging age from 25 81, Male 54.8%) having...
Abstract Background Adults with Down Syndrome (DS) clearly show a higher risk of developing Alzheimer's disease (AD) when compared the general population. Thus, it is important to investigate role AD‐related biomarkers in adults DS. Here we have performed genome‐wide association analyses on Tau‐PET and plasma Tau levels participants Alzheimer’s Biomarker Consortium – (ABC‐DS). Method Genome‐wide were 320 individuals European descent DS (ranging age from 25 81, Male 54.1%) having biomarker...
Abstract Background Down syndrome (DS) is a complex neurological disorder manifested by triplication of chromosome 21, which includes the amyloid precursor protein ( APP ) gene. Triplication known for buildup Amyloid Beta plaques, hallmark Alzheimer’s disease (AD) pathology. Although researchers have studied genetic factors AD risk in DS, overall contribution DS still not clear. While polygenic score (PRS) explains architecture and overlap between traits, no study has used PRS to understand...
Abstract Background Plasma neurofilament light (NfL) and total tau (t‐tau) are emerging as promising biomarkers of Alzheimer’s disease (AD) in adults with Down Syndrome (DS). Sex may influence the levels these however, research on sex differences is limited. In this study, we examined whether influences plasma clinical classification accuracy NfL t‐tau. Method We performed a cross‐sectional analysis 275 DS (106 males; 169 females) from community‐based cohort. Levels t‐tau were measured using...
Beta amyloid peptides, Aβ40 and Aβ42, are the major species generated by cleavage of precursor protein (APP), located on chromosome 21, play a critical role in development Alzheimer's disease (AD). However, there large individual differences Aβ peptide levels, wide range age at onset dementia. We others have found that high initial levels subsequent declines plasma Aβ42 Aβ42/Aβ40 ratio associated with increased risk for AD. Participants were 192 adults Down syndrome, 40-78 years age,...
The exposome reflects the many exposures to various factors across life-course that can affect health. Sensitive techniques like metabolomics reveal underlying molecular basis linking disease and generate hypotheses for future quantitative toxicological studies. Current applications of are primarily identify metabolic changes a single exposure health outcome(s); there is no general framework multiple exposures. Here, we explore concept ‘molecular gatekeepers’—key metabolites link or...
Abstract Background The value of plasma neurofilament light (NfL), a marker neurodegeneration, in Alzheimer’s Disease (AD) has been reported the general population. However, evidence for NfL as predictive neurodegeneration adults with Down Syndrome (DS) is limited. small number longitudinal studies have short follow‐up periods. Thus, prognostic indicator AD still unknown. To date, no study examined whether levels predict trajectories cognitive decline DS. In this study, we will examine...
The exposome reflects the many exposures to various factors across life-course that can affect health. Sensitive techniques like metabolomics reveal underlying molecular basis linking disease and generate hypotheses for future quantitative toxicological studies. Current applications of are primarily identify metabolic changes a single exposure health outcome(s); there is no general framework multiple exposures. Here, we explore concept ‘molecular gatekeepers’—key metabolites link or...
The CUGBP2 gene was first reported to be associated with familial late onset Alzheimer disease (LOAD) in White and Caribbean Hispanics, especially the presence of homozygous APOE E4, suggesting that may involved regulation or processing amyloid β (Aβ) peptides. To extend this finding, we examined a larger set Hispanic non-Hispanic cohorts. We then studied adults Down syndrome (DS), who have excess levels Aβ from having three copies APP gene. corroborate findings genetic association, whether...
Abstract Background Only a few studies in the general population have investigated genetic contributions to variation levels of neurofilament light (NfL), which is marker axonal damage and predictive Alzheimer’s disease (AD). To our knowledge, no examined this relation people with Down Syndrome (DS), at high risk developing AD. We performed genome‐wide search for SNPs associated plasma NfL levels. paid special attention variants identified be AD evaluate whether those contributed DS by...
Abstract: Down Syndrome (DS), caused by triplication of human chromosome 21 (Hsa21) is the most common form intellectual disability worldwide. Recent progress in healthcare has resulted a dramatic increase lifespan individuals with DS. Unfortunately, will develop Alzheimer’s disease like dementia (DS-AD) as they age. Understanding similarities and differences between DSAD other forms – i.e., late-onset AD (LOAD) autosomal dominant (ADAD) provide important clues for treatment DS-AD. In...